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Items: 1 to 20 of 28

1.

Pleomorphic Malignant Fibrous Histiocytoma

MedGen UID:
309933
Concept ID:
C1704218
Neoplastic Process
2.

Histiocytoma

MedGen UID:
267592
Concept ID:
C1509147
Neoplastic Process
3.

Mosaicism 45, X; 46, XX

MedGen UID:
609532
Concept ID:
C0432465
Disease or Syndrome
4.

Undifferentiated Pleomorphic Sarcoma

An undifferentiated soft tissue sarcoma characterized by the presence of a pleomorphic malignant cellular infiltrate. It is also known as malignant fibrous histiocytoma. [from NCI]

MedGen UID:
87248
Concept ID:
C0334463
Neoplastic Process
5.

Severe combined immunodeficiency disease

MedGen UID:
88328
Concept ID:
C0085110
Disease or Syndrome
6.

High Level

A response indicating a high level. [from NCI]

MedGen UID:
1377318
Concept ID:
C4321237
Finding
7.

Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis

SOFT syndrome is characterized by severely short long bones, peculiar facies associated with paucity of hair, and nail anomalies. Growth retardation is evident on prenatal ultrasound as early as the second trimester of pregnancy, and affected individuals reach a final stature consistent with a height age of 6 years to 8 years. Relative macrocephaly is present during early childhood but head circumference is markedly low by adulthood. Psychomotor development is normal. Facial dysmorphism includes a long, triangular face with prominent nose and small ears, and affected individuals have an unusual high-pitched voice. Clinodactyly, brachydactyly, and hypoplastic distal phalanges and fingernails are present in association with postpubertal sparse and short hair. Typical skeletal findings include short and thick long bones with mild irregular metaphyseal changes, short femoral necks, and hypoplastic pelvis and sacrum. All long bones of the hand are short, with major delay of carpal ossification and cone-shaped epiphyses. Vertebral body ossification is also delayed (summary by Sarig et al., 2012). [from OMIM]

MedGen UID:
762199
Concept ID:
C3542022
Disease or Syndrome
8.

Sarcoma, metastatic

MedGen UID:
677117
Concept ID:
C0748505
Neoplastic Process
9.

Combined immunodeficiency

MedGen UID:
505803
Concept ID:
CN004782
Finding
10.

Severe combined immunodeficiency

MedGen UID:
505637
Concept ID:
CN003925
Finding
11.

Peroxisome Biogenesis Disorder, Complementation Group H

MedGen UID:
356488
Concept ID:
C1866260
Disease or Syndrome
12.

Immunodeficiency due to defect in cd3-zeta

MedGen UID:
346666
Concept ID:
C1857798
Disease or Syndrome
13.

Pathogenesis

The pathologic, physiologic, or biochemical mechanism resulting in the development of a disease or morbid process. [from NCI]

MedGen UID:
195936
Concept ID:
C0699748
Pathologic Function
14.

Combined immunodeficiency

MedGen UID:
141668
Concept ID:
C0494261
Disease or Syndrome
15.

Severe

Having a high degree of severity. For quantitative traits, a deviation of between four and five standard deviations from the appropriate population mean. [from HPO]

MedGen UID:
104640
Concept ID:
C0205082
Qualitative Concept
16.

Immunodeficiency

MedGen UID:
7034
Concept ID:
C0021051
Disease or Syndrome
17.

Sarcoma

MedGen UID:
224714
Concept ID:
C1261473
Neoplastic Process
18.

Epithelioid Sarcoma

An aggressive malignant neoplasm of uncertain differentiation, characterized by the presence of epithelioid cells forming nodular patterns. The nodules often undergo central necrosis, resulting in a pseudogranulomatous growth pattern. It usually occurs in young adults. The most common sites of involvement are the extremities (distal-type epithelioid sarcoma), and less frequently the pelvis, perineum, and genital organs (proximal-type epithelioid sarcoma). [from NCI]

MedGen UID:
104753
Concept ID:
C0205944
Neoplastic Process
19.

Connective and Soft Tissue Neoplasm

A benign, intermediate, or malignant neoplasm that affects the connective and soft tissue. [from NCI]

MedGen UID:
60224
Concept ID:
C0206765
Neoplastic Process
20.

Fibrous tissue neoplasm

MedGen UID:
60198
Concept ID:
C0206643
Neoplastic Process
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